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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 COXPD26
616539
OMIM = Online Medalian Inheritance of Men
477684
14q23.1
rare
autosomal recessive
mutation in the TRMT5 gene
symptoms
blue eyes
cardiomyopathy
cardiomyopathy, hypertrophic
cirrhosis or fibrosis of liver
failure to thrive
hyperreflexia
hypertonia, spasticity
lactic acidosis
malabsorption
onset, infancy
psychomotor retardation
speech development, delayed, abnormal
laboratory finding
L-Lactic acid increasedserum
Literature
Richard Eet al.Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresisJ Proteome Res571602-16102006